日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results

对强迫症患者进行深度临床表型分析:一种检测器质性病因的方法及初步结果

Runge, Kimon; Reisert, Marco; Feige, Bernd; Nickel, Kathrin; Urbach, Horst; Venhoff, Nils; Tzschach, Andreas; Schiele, Miriam A; Hannibal, Luciana; Prüss, Harald; Domschke, Katharina; Tebartz van Elst, Ludger; Endres, Dominique

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study

PIGN基因的双等位基因变异导致弗林斯综合征、多发性先天性异常-肌张力低下-癫痫综合征和神经系统表型:一项基因型-表型相关性研究

Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T; Alt, Kerstin; Böhrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M; Kuhn, Marius; Lemke, Johannes R; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K; Płoski, Rafał; Quarrell, Oliver W; Rosello, Monica; Rydzanicz, Małgorzata; Sabir, Ataf; Śmigiel, Robert; Stegmann, Alexander P A; Stewart, Helen; Stumpel, Constance; Szczepanik, Elżbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

ACTG1相关Baraitser-Winter脑额面综合征的强迫症症状

Göbel, Theresa; Berninger, Lea; Schlump, Andrea; Feige, Bernd; Runge, Kimon; Nickel, Kathrin; Schiele, Miriam A; van Elst, Ludger Tebartz; Hotz, Alrun; Alter, Svenja; Domschke, Katharina; Tzschach, Andreas; Endres, Dominique

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis

将分子肿瘤委员会从概念验证过渡到临床常规:一项德国单中心分析

Hoefflin, Rouven; Lazarou, Adriana; Hess, Maria Elena; Reiser, Meike; Wehrle, Julius; Metzger, Patrick; Frey, Anna Verena; Becker, Heiko; Aumann, Konrad; Berner, Kai; Boeker, Martin; Buettner, Nico; Dierks, Christine; Duque-Afonso, Jesus; Eisenblaetter, Michel; Erbes, Thalia; Fritsch, Ralph; Ge, Isabell Xiang; Geißler, Anna-Lena; Grabbert, Markus; Heeg, Steffen; Heiland, Dieter Henrik; Hettmer, Simone; Kayser, Gian; Keller, Alexander; Kleiber, Anita; Kutilina, Alexandra; Mehmed, Leman; Meiss, Frank; Poxleitner, Philipp; Rawluk, Justyna; Ruf, Juri; Schäfer, Henning; Scherer, Florian; Shoumariyeh, Khalid; Tzschach, Andreas; Peters, Christoph; Brummer, Tilman; Werner, Martin; Duyster, Justus; Lassmann, Silke; Miething, Cornelius; Boerries, Melanie; Illert, Anna L; von Bubnoff, Nikolas

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

以228例遗传性乳腺癌和卵巢癌综合征患者队列为例,探讨运用当前分子遗传学方法进行扩展分析的重要性

Resch, Luise D; Hotz, Alrun; Zimmer, Andreas D; Komlosi, Katalin; Singh, Nina; Tzschach, Andreas; Windfuhr-Blum, Marisa; Juhasz-Boess, Ingolf; Erbes, Thalia; Fischer, Judith; Alter, Svenja

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

由ADNP基因突变引起的复杂神经发育障碍的临床表现

Van Dijck, Anke; Vulto-van Silfhout, Anneke T; Cappuyns, Elisa; van der Werf, Ilse M; Mancini, Grazia M; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B A; Küry, Sébastien; Rosenfeld, Jill A; Meuwissen, Marije E; Vandeweyer, Geert; Kooy, R Frank

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

KCNC1相关疾病:新发现的从头变异扩展了表型谱

Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B S; Hermann, Andreas; Cremer, Kirsten; Haberlandt, Edda; Grimmel, Mona; Alhaddad, Bader; Beck-Woedl, Stefanie; Harrer, Merle; Karall, Daniela; Kingelhoefer, Lisa; Tzschach, Andreas; Matthies, Lars C; Strom, Tim M; Ringelstein, Erich Bernd; Sturm, Marc; Engels, Hartmut; Wolff, Markus; Lerche, Holger; Haack, Tobias B

Diagnostic value of partial exome sequencing in developmental disorders

部分外显子组测序在发育障碍诊断中的价值

Gieldon, Laura; Mackenroth, Luisa; Kahlert, Anne-Karin; Lemke, Johannes R; Porrmann, Joseph; Schallner, Jens; von der Hagen, Maja; Markus, Susanne; Weidensee, Sabine; Novotna, Barbara; Soerensen, Charlotte; Klink, Barbara; Wagner, Johannes; Tzschach, Andreas; Jahn, Arne; Kuhlee, Franziska; Hackmann, Karl; Schrock, Evelin; Di Donato, Nataliya; Rump, Andreas